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Capturing schizophrenia-like prodromal symptoms in a spinocerebellar ataxia-17 transgenic rat.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Patent Signals of IPO Performance: Evidence from High- and Low-Tech Industries in Japan.
- Published in:
- Asian Journal of Technology Management (AJTM), 2022, v. 15, n. 1, p. 21, doi. 10.12695/ajtm.2022.15.1.2
- By:
- Publication type:
- Article
The Novel Alpha-2 Adrenoceptor Inhibitor Beditin Reduces Cytotoxicity and Huntingtin Aggregates in Cell Models of Huntington's Disease.
- Published in:
- Pharmaceuticals (14248247), 2021, v. 14, n. 3, p. 257, doi. 10.3390/ph14030257
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- Publication type:
- Article
DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Lack of Huntington-Associated Protein-1 Causes Neuronal Death Resembling Hypothalamic Degeneration in Huntington's Disease.
- Published in:
- Journal of Neuroscience, 2003, v. 23, n. 17, p. 6956, doi. 10.1523/JNEUROSCI.23-17-06956.2003
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- Publication type:
- Article
Mitochondria and Energetic Depression in Cell Pathophysiology.
- Published in:
- International Journal of Molecular Sciences, 2009, v. 10, n. 5, p. 2252, doi. 10.3390/ijms10052252
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- Publication type:
- Article
Structural architecture and brain network efficiency link polygenic scores to intelligence.
- Published in:
- Human Brain Mapping, 2023, v. 44, n. 8, p. 3359, doi. 10.1002/hbm.26286
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- Publication type:
- Article
Detection of a heterozygous germline APC mutation in a three-generation family with familial adenomatous polyposis using targeted massive parallel sequencing in Vietnam.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12881-018-0701-y
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- Publication type:
- Article
Age‐related alteration of emotional regulation in the BACHD rat model of Huntington disease.
- Published in:
- Genes, Brain & Behavior, 2020, v. 19, n. 5, p. 1, doi. 10.1111/gbb.12633
- By:
- Publication type:
- Article
Huntingtin forms toxic NH2-terminal fragment complexes that are promoted by the age-dependent decrease in proteasome activity.
- Published in:
- Journal of Cell Biology, 2003, v. 163, n. 1, p. 109, doi. 10.1083/jcb.200306038
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- Publication type:
- Article
Reduction in Subventricular Zone-Derived Olfactory Bulb Neurogenesis in a Rat Model of Huntington’s Disease Is Accompanied by Striatal Invasion of Neuroblasts.
- Published in:
- PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0116069
- By:
- Publication type:
- Article
Reduced Motivation in the BACHD Rat Model of Huntington Disease Is Dependent on the Choice of Food Deprivation Strategy.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0105662
- By:
- Publication type:
- Article
Early Deficits in Glycolysis Are Specific to Striatal Neurons from a Rat Model of Huntington Disease.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0081528
- By:
- Publication type:
- Article
Reversal Learning and Associative Memory Impairments in a BACHD Rat Model for Huntington Disease.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0071633
- By:
- Publication type:
- Article
The V471A Polymorphism in Autophagy-Related Gene <i>ATG7</i> Modifies Age at Onset Specifically in Italian Huntington Disease Patients.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0068951
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- Publication type:
- Article
Assessment of Motor Function, Sensory Motor Gating and Recognition Memory in a Novel BACHD Transgenic Rat Model for Huntington Disease.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0068584
- By:
- Publication type:
- Article
Cerebellar Soluble Mutant Ataxin-3 Level Decreases during Disease Progression in Spinocerebellar Ataxia Type 3 Mice.
- Published in:
- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0062043
- By:
- Publication type:
- Article
The Guanine Nucleotide Exchange Factor Kalirin-7 Is a Novel Synphilin-1 Interacting Protein and Modifies Synphilin-1 Aggregate Transport and Formation.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0051999
- By:
- Publication type:
- Article
Age at onset in Huntington’s disease is modified by the autophagy pathway: implication of the V471A polymorphism in Atg7.
- Published in:
- Human Genetics, 2010, v. 128, n. 4, p. 453, doi. 10.1007/s00439-010-0873-9
- By:
- Publication type:
- Article
Novel NUP98::ASH1L Gene Fusion in Acute Myeloid Leukemia Detected by Optical Genome Mapping.
- Published in:
- Cancers, 2023, v. 15, n. 11, p. 2942, doi. 10.3390/cancers15112942
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- Publication type:
- Article
Optical Genome Mapping for Cytogenetic Diagnostics in AML.
- Published in:
- Cancers, 2023, v. 15, n. 6, p. 1684, doi. 10.3390/cancers15061684
- By:
- Publication type:
- Article
Huntington disease update: new insights into the role of repeat instability in disease pathogenesis.
- Published in:
- Medizinische Genetik, 2021, v. 33, n. 4, p. 293, doi. 10.1515/medgen-2021-2101
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- Publication type:
- Article
Huntington-Erkrankung.
- Published in:
- Medizinische Genetik, 2018, v. 30, n. 2, p. 246, doi. 10.1007/s11825-018-0190-6
- By:
- Publication type:
- Article
Cholesterol Defect Is Marked across Multiple Rodent Models of Huntington's Disease and Is Manifest in Astrocytes.
- Published in:
- Journal of Neuroscience, 2010, v. 30, n. 32, p. 10844, doi. 10.1523/JNEUROSCI.0917-10.2010
- By:
- Publication type:
- Article
Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort.
- Published in:
- Frontiers in Oncology, 2022, v. 11, p. 1, doi. 10.3389/fonc.2021.789659
- By:
- Publication type:
- Article
Optical genome mapping reveals additional prognostic information compared to conventional cytogenetics in AML/MDS patients.
- Published in:
- International Journal of Cancer, 2022, v. 150, n. 12, p. 1998, doi. 10.1002/ijc.33942
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- Publication type:
- Article
Adenoma and colorectal cancer risks in Lynch syndrome, Lynch‐like syndrome and familial colorectal cancer type X.
- Published in:
- International Journal of Cancer, 2022, v. 150, n. 1, p. 56, doi. 10.1002/ijc.33790
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- Publication type:
- Article
Early detection of duodenal cancer by upper gastrointestinal‐endoscopy in Lynch syndrome.
- Published in:
- International Journal of Cancer, 2021, v. 149, n. 12, p. 2052, doi. 10.1002/ijc.33753
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- Publication type:
- Article
Calpains as novel players in the molecular pathogenesis of spinocerebellar ataxia type 17.
- Published in:
- Cellular & Molecular Life Sciences, 2022, v. 79, n. 5, p. 1, doi. 10.1007/s00018-022-04274-6
- By:
- Publication type:
- Article
N-terminal ataxin-3 causes neurological symptoms with inclusions, endoplasmic reticulum stress and ribosomal dislocation.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 7, p. 1925
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- Publication type:
- Article
Killing Two Angry Birds with One Stone: Autophagy Activation by Inhibiting Calpains in Neurodegenerative Diseases and Beyond.
- Published in:
- BioMed Research International, 2019, p. 1, doi. 10.1155/2019/4741252
- By:
- Publication type:
- Article
Phoenix from the ashes: dramatic improvement in severe late-onset methylenetetrahydrofolate reductase (MTHFR) deficiency with a complete loss of vision.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 4, p. 2206, doi. 10.1007/s00415-021-10841-x
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- Publication type:
- Article
H3 Acetylation-Induced Basal Progenitor Generation and Neocortex Expansion Depends on the Transcription Factor Pax6.
- Published in:
- Biology (2079-7737), 2024, v. 13, n. 2, p. 68, doi. 10.3390/biology13020068
- By:
- Publication type:
- Article
Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 15, p. 2551, doi. 10.1093/hmg/ddaa139
- By:
- Publication type:
- Article
Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3).
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 3, p. 508, doi. 10.1093/hmg/dds449
- By:
- Publication type:
- Article
Value of upper gastrointestinal endoscopy for gastric cancer surveillance in patients with Lynch syndrome.
- Published in:
- International Journal of Cancer, 2021, v. 148, n. 1, p. 106, doi. 10.1002/ijc.33294
- By:
- Publication type:
- Article
Normal-Weight 14-Year-Old Girl with Acanthosis Nigricans and Markedly Increased Hepatic Steatosis: Evidence for the Important Role of Ectopic Fat Deposition in the Pathogenesis of Insulin Resistance in Childhood and Adolescence.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Association of the neonatal Fc receptor promoter variable number of tandem repeat polymorphism with immunoglobulin response in patients with chronic inflammatory demyelinating polyneuropathy.
- Published in:
- European Journal of Neurology, 2024, v. 31, n. 4, p. 1, doi. 10.1111/ene.16205
- By:
- Publication type:
- Article
The BACHD Rat Model of Huntington Disease Shows Signs of Fronto-Striatal Dysfunction in Two Operant Conditioning Tests of Short-Term Memory.
- Published in:
- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0169051
- By:
- Publication type:
- Article
Loss of BAF Complex in Developing Cortex Perturbs Radial Neuronal Migration in a WNT Signaling-Dependent Manner.
- Published in:
- Frontiers in Molecular Neuroscience, 2021, v. 14, p. 1, doi. 10.3389/fnmol.2021.687581
- By:
- Publication type:
- Article
Differential diagnosis of chorea (guidelines of the German Neurological Society).
- Published in:
- Neurological Research & Practice, 2023, v. 5, n. 1, p. 1, doi. 10.1186/s42466-023-00292-2
- By:
- Publication type:
- Article
Symptomatic treatment options for Huntington's disease (guidelines of the German Neurological Society).
- Published in:
- Neurological Research & Practice, 2023, v. 5, n. 1, p. 1, doi. 10.1186/s42466-023-00285-1
- By:
- Publication type:
- Article
Optical Genome Mapping Reveals Genomic Alterations upon Gene Editing in hiPSCs: Implications for Neural Tissue Differentiation and Brain Organoid Research.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 6, p. 507, doi. 10.3390/cells13060507
- By:
- Publication type:
- Article
Intravenous MSC-Treatment Improves Impaired Brain Functions in the R6/2 Mouse Model of Huntington's Disease via Recovered Hepatic Pathological Changes.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 6, p. 469, doi. 10.3390/cells13060469
- By:
- Publication type:
- Article
Evidences for Mutant Huntingtin Inducing Musculoskeletal and Brain Growth Impairments via Disturbing Testosterone Biosynthesis in Male Huntington Disease Animals.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 23, p. 3779, doi. 10.3390/cells11233779
- By:
- Publication type:
- Article
The Diverse Calpain Family in Trypanosomatidae: Functional Proteins Devoid of Proteolytic Activity?
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 2, p. 299, doi. 10.3390/cells10020299
- By:
- Publication type:
- Article
Intranasal Administration of Mesenchymal Stem Cells Ameliorates the Abnormal Dopamine Transmission System and Inflammatory Reaction in the R6/2 Mouse Model of Huntington Disease.
- Published in:
- Cells (2073-4409), 2019, v. 8, n. 6, p. 595, doi. 10.3390/cells8060595
- By:
- Publication type:
- Article
bHLH Transcription Factor Math6 Antagonizes TGF-β Signalling in Reprogramming, Pluripotency and Early Cell Fate Decisions.
- Published in:
- Cells (2073-4409), 2019, v. 8, n. 6, p. 529, doi. 10.3390/cells8060529
- By:
- Publication type:
- Article
Editorial: The role of posttranslational modifications in polyglutamine diseases.
- Published in:
- Frontiers in Molecular Neuroscience, 2023, p. 1, doi. 10.3389/fnmol.2023.1271226
- By:
- Publication type:
- Article
Implications of specific lysine residues within ataxin-3 for the molecular pathogenesis of Machado-Joseph disease.
- Published in:
- Frontiers in Molecular Neuroscience, 2023, p. 1, doi. 10.3389/fnmol.2023.1133271
- By:
- Publication type:
- Article